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dc.contributor.author오기욱-
dc.date.accessioned2017-05-08T05:43:21Z-
dc.date.available2017-05-08T05:43:21Z-
dc.date.issued2015-08-
dc.identifier.citationJOURNAL OF CLINICAL NEUROLOGY, v. 11, NO 4, Page. 390-394en_US
dc.identifier.issn1738-6586-
dc.identifier.issn2005-5013-
dc.identifier.urihttps://synapse.koreamed.org/search.php?where=aview&id=10.3988/jcn.2015.11.4.390&code=0145JCN&vmode=FULL-
dc.identifier.urihttp://hdl.handle.net/20.500.11754/27171-
dc.description.abstractBackground The coexistence of an autoimmune disease and amyotrophic lateral sclerosis (ALS) has led to the hypothesis that immune-mediated pathological mechanisms are overlapping in the two diseases. We report herein a rare coexistence of bullous pemphigoid (BP) in a novel mutation (F45S) of the gene encoding Cu/Zn superoxide dismutase (SOD1) in an ALS patient, and discuss a role for the SOD1 mutation in this unusual overlap. Case Report A 57-year-old male with familial ALS, including vesicles and tense bullae on erythematous bases, was diagnosed with BP. Direct immunofluorescence revealed deposits of C3 and immunoglobulin G in the basement membrane zone. Direct sequencing of SOD1 in the patient revealed a novel mutation (c.137T>C; F45S). Conclusions We report a novel SOD1 mutation in ALS, which was combined with BR This novel SOD1 mutation could affect the phenotype of a combined autoimmune disease and matrix metalloproteinase-9. There may therefore be common factors linking BP and ALS with the SOD1 mutation.en_US
dc.description.sponsorshipThis study was supported by a grant from the Korea Healthcare Technology R&D Project, Ministry for Health, Welfare & Family Affairs, Republic of Korea (A120182).en_US
dc.language.isoenen_US
dc.publisherKOREAN NEUROLOGICAL ASSOCen_US
dc.subjectamyotrophic lateral sclerosisen_US
dc.subjectbullous pemphigoiden_US
dc.subjectsuperoxide dismutaseen_US
dc.subjectautoimmunityen_US
dc.titleA Novel F45S SOD1 Mutation in Amyotrophic Lateral Sclerosis Coexisting with Bullous Pemphigoiden_US
dc.typeArticleen_US
dc.relation.no4-
dc.relation.volume11-
dc.identifier.doi10.3988/jcn.2015.11.4.390-
dc.relation.page390-394-
dc.relation.journalJOURNAL OF CLINICAL NEUROLOGY-
dc.contributor.googleauthorOh, Seong-il-
dc.contributor.googleauthorHong, Jeong Ho-
dc.contributor.googleauthorChoi, Byung Woo-
dc.contributor.googleauthorOh, Ki-Wook-
dc.contributor.googleauthorPark, Chan Kum-
dc.contributor.googleauthorKwon, Min-Jung-
dc.contributor.googleauthorKi, Chang-Seok-
dc.contributor.googleauthorKo, Joo Yeon-
dc.contributor.googleauthorKim, Seung Hyun-
dc.relation.code2015012721-
dc.sector.campusS-
dc.sector.daehakCOLLEGE OF MEDICINE[S]-
dc.sector.departmentDEPARTMENT OF MEDICINE-
dc.identifier.pidkiwook-oh-
dc.identifier.researcherIDE-6996-2017-
dc.identifier.orcidhttp://orcid.org/0000-0001-6011-629X-
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COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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